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Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype

  • Simona Brioschi1,
  • Francesca Gualandi1,
  • Chiara Scotton1,
  • Annarita Armaroli1,
  • Matteo Bovolenta1,
  • Maria S Falzarano1,
  • Patrizia Sabatelli2,
  • Rita Selvatici1,
  • Adele D’Amico3,
  • Marika Pane4,
  • Giulia Ricci5,
  • Gabriele Siciliano5,
  • Silvana Tedeschi6,
  • Antonella Pini7,
  • Liliana Vercelli8,
  • Domenico De Grandis9,
  • Eugenio Mercuri4,
  • Enrico Bertini3,
  • Luciano Merlini1, 2,
  • Tiziana Mongini8 and
  • Alessandra Ferlini1Email author
BMC Medical Genetics201213:73

DOI: 10.1186/1471-2350-13-73

Received: 11 April 2012

Accepted: 8 August 2012

Published: 16 August 2012

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Open Peer Review reports

Pre-publication versions of this article and author comments to reviewers are available by contacting info@biomedcentral.com.

Original Submission
11 Apr 2012 Submitted Original manuscript
Resubmission - Version 2
Submitted Manuscript version 2
14 Jun 2012 Reviewed Reviewer Report - craig campbell
15 Jun 2012 Reviewed Reviewer Report - Hendrika Ginjaar
21 Jul 2012 Author responded Author comments - Simona Brioschi
Resubmission - Version 3
21 Jul 2012 Submitted Manuscript version 3
3 Aug 2012 Reviewed Reviewer Report - craig campbell
3 Aug 2012 Reviewed Reviewer Report - Hendrika Ginjaar
Resubmission - Version 4
Submitted Manuscript version 4
Publishing
8 Aug 2012 Editorially accepted
16 Aug 2012 Article published 10.1186/1471-2350-13-73

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article. Pre-publication versions of the article and author comments to reviewers are available by contacting info@biomedcentral.com. All previous versions of the manuscript and all author responses to the reviewers are also available.

You can find further information about the peer review system here.

Authors’ Affiliations

(1)
Section of Medical Genetics, Department of Experimental and Diagnostic Medicine, University of Ferrara
(2)
Istituto Di Genetica Molecolare-CNR, Istituto Ortopedico Rizzoli
(3)
Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital
(4)
Department of Child Neurology and Psychiatry, Catholic University
(5)
Department of Neuroscience, Neurological Clinic, University of Pisa
(6)
Laboratory of Medical Genetics, I.R.C.C.S. Foundation Ca’ Granda, Maggiore Hospital
(7)
Child Neurology and Psychiatry Unit, Maggiore Hospital
(8)
Neuromuscular Center, S.G. Battista Hospital, University of Turin
(9)
Division of Neurology, Department of Neuroscience, Civile Hospital Santa Maria della Misericordia

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